Search Results - "Sarfarazi, M."

Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues by Choudhary, D., Jansson, I., Schenkman, J.B., Sarfarazi, M., Stoilov, I.

“…This study is the first systematic investigation of the gestational age-dependent and adult tissue-specific expression patterns of each known mouse CYP family…”
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Milroy disease and the VEGFR-3 mutation phenotype by Brice, G, Child, A H, Evans, A, Bell, R, Mansour, S, Burnand, K, Sarfarazi, M, Jeffery, S, Mortimer, P

“…Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined…”
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Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 by Brice, G, Mansour, S, Bell, R, Collin, J R O, Child, A H, Brady, A F, Sarfarazi, M, Burnand, K G, Jeffery, S, Mortimer, P, Murday, V A

“…Introduction: Lymphoedema-distichiasis syndrome (LD) (OMIM 153400) is a rare, primary lymphoedema of pubertal onset, associated with distichiasis. Causative…”
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Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema by Evans, A L, Bell, R, Brice, G, Comeglio, P, Lipede, C, Jeffery, S, Mortimer, P, Sarfarazi, M, Child, A H

“…5, 6 The gene for LD has recently been identified as FOXC2 (MFH-1) (MIM 602402), a member of the forkhead/winged-helix family of transcription factors, and…”
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Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma by Plášilová, Martina, Stoilov, Ivaylo, Sarfarazi, Mansoor, Kádasi, Ludovít, Feráková, Eva, Ferák, Vladimír

“…Primary congenital glaucoma (PCG) is an autosomal recessive eye disease that occurs at an unusually high frequency in the ethnic isolate of Roms (Gypsies) in…”
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Physiological Significance and Expression of P450s in the Developing Eye by Choudhary, D., Jansson, I., Sarfarazi, M., Schenkman, J. B.

“…Expression of 10 CYP orthologs (Families 1-3) in developing mouse conceptus is constitutive. These forms have specific temporal and spatial expression. Studies…”
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Localization of a Locus (GLC1B) for Adult-Onset Primary Open Angle Glaucoma to the 2cen–q13 Region by Stoilova, Diliana, Child, Anne, Trifan, Ovidiu C., Crick, R.Pitts, Coakes, Roger L., Sarfarazi, Mansoor

“…Primary open angle glaucoma (GLC1) is a common ocular disorder with a characteristic degeneration of the optic nerve and visual field defects that is often…”
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Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity by Sarfarazi, Mansoor, Akarsu, Nurten A., Hossain, Altaf, Turacli, Erol M., Aktan, Gulderen S., Barsoum-Homsy, Magda, Chevrette, Line, Sayli, Sitki B.

“…Primary congenital glaucoma (GLC3) is an inherited eye disorder that accounts for 0.01–0.04% of total blindness. Although a large number of chromosomal…”
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A Gene for Lymphedema-Distichiasis Maps to 16q24.3 by Mangion, J., Rahman, N., Mansour, S., Brice, G., Rosbotham, J., Child, A.H., Murday, V.A., Mortimer, P.S., Barfoot, R., Sigurdsson, A., Edkins, S., Sarfarazi, M., Burnand, K., Evans, A.L., Nunan, T.O., Stratton, M.R., Jeffery, S.

“…Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have…”
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Family pedigree analysis of children with severe breath-holding spells by DiMario, Francis J., Sarfarazi, Mansoor

“…We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose…”
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Optimization of Anthocyanin Extraction from Saffron Petals with Response Surface Methodology by Khazaei, K. Mahdavee, Jafari, S. M., Ghorbani, M., Kakhki, A. Hemmati, Sarfarazi, M.

“…Optimum extraction conditions of anthocyanins from petals of saffron ( Crocus sativus ) using acidified ethanol as the solvent were revealed. The investigated…”
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Visual event related potentials modulated by contextually relevant and irrelevant olfactory primes by SARFARAZI, M, CAVE, B, RICHARDSON, A, BEHAN, J, SEDGWICK, E. M

“…Visual evoked potentials were recorded from 16 scalp locations on 10 young subjects during presentation of a series of high-quality photographs on a computer…”
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Recent Advances in Molecular Genetics of Glaucomas by SARFARAZI, M

“…Glaucomas are a heterogeneous group of eye conditions with manifestation from as early as birth to very late age of onset in life. The primary type of these…”
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Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome by Davies, K.E., Pearson, P.L., Harper, P.S., Murray, J.M., O'Brien, T., Sarfarazi, M., Williamson, R.

“…The inheritance of two restriction fragment length poiymorphisns (Rl'LPs) on the short arm of the human X chromosome has been studied relative to Duchenne…”
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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1 by Monemi, Sharareh, Spaeth, George, DaSilva, Alexander, Popinchalk, Samuel, Ilitchev, Elena, Liebmann, Jeffrey, Ritch, Robert, Héon, Elise, Crick, Ronald Pitts, Child, Anne, Sarfarazi, Mansoor

“…Glaucoma is a leading cause of blindness in virtually every country. Development of an accurate diagnostic test for presymptomatic detection of individuals at…”
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Expression patterns of mouse and human CYP orthologs (families 1–4) during development and in different adult tissues by Choudhary, Dharamainder, Jansson, Ingela, Stoilov, Ivaylo, Sarfarazi, Mansoor, Schenkman, John B.

“…The present study compared the relative expression pattern of 10 orthologous CYP forms from families 1–4 in cDNA panels of human and mouse fetal and adult…”
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Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin by Rezaie, Tayebeh, Child, Anne, Hitchings, Roger, Brice, Glen, Miller, Lauri, Coca-Prados, Miguel, Héon, Elise, Krupin, Theodore, Ritch, Robert, Kreutzer, Donald, Crick, R. Pitts, Sarfarazi, Mansoor

“…Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal…”
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Watson syndrome: is it a subtype of type 1 neurofibromatosis? by Allanson, J E, Upadhyaya, M, Watson, G H, Partington, M, MacKenzie, A, Lahey, D, MacLeod, H, Sarfarazi, M, Broadhead, W, Harper, P S

“…Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence…”
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DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease by Upadhyaya, M, Lunt, P W, Sarfarazi, M, Broadhead, W, Daniels, J, Owen, M, Harper, P S

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Cause of Primary Congenital Lymphedema by Child, Anne H., Beninson, Joseph, Sarfarazi, Mansoor

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